ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.188T>C (p.Val63Ala)

dbSNP: rs1568690276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709571 SCV000839410 uncertain significance Peutz-Jeghers syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709571 SCV004311065 uncertain significance Peutz-Jeghers syndrome 2023-08-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 584981). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 63 of the STK11 protein (p.Val63Ala). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STK11 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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